P19L (p.Pro19Leu) variant of DYRK1A (Q13627)
P19L (p.Pro19Leu) in DYRK1A (Q13627) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- rs1056885794
- ClinGen CA320471805
- cosmic curated COSV58296
- ClinVar RCV001924798
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- MetaLR 0.34
- MetaSVM -0.46
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: DYRK1A Syndrome. (PMID 26677511)